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ATAXIA-OCULOMOTOR APRAXIA 1
(OMIM ID: 208920)

Known also as: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (EAOH); ATAXIA-OCULOMOTOR APRAXIA SYNDROME (AOA); ATAXIA-TELANGIECTASIA-LIKE SYNDROME; CEREBELLAR ATAXIA EARLY-ONSET WITH HYPOALBUMINEMIA (EOCA-HA);ATAXIA ADULT-ONSET WITH OCULOMOTOR APRAXIA INCLUDED


AOA1 is an autosomal recessive spinocerebellar ataxia syndrome that resembles Friedreich's ataxia and A-T (ataxia telangiectasia) neurologically, but which lacks extraneurological features such as immunodeficiency and telangiectasia. A recent study of 14 French, Italian and Algerian AOA1 patients from nine families supports the likelihood that, although cerebellar atrophy, ataxia and sensorimotor axonal neuropathy are common to most AOA1 patients, the presence and severity of other features is more variable (~85% of patients in the case of oculomotor apraxia). Variation in clinical impact and/or severity of AOA1 is suggested further by reported clinical overlap with other neurological diseases/conditions, such as MSA (multiple system atrophy) and ataxia with coenzyme Q10 deficiency. AOA1 accounts for 5-10% of all autosomal recessive cerebellar ataxias and has variable age of onset (typically 1-18 years), with a mean of ~5 years. Unlike A-T cells, AOA1 cells are only mildly sensitive, if at all, to ionizing radiation and other genotoxins, and exhibit normal cell-cycle-checkpoint control and chromosome stability following ionizing radiation. Consistent with these observations, elevated cancer incidence has not been reported in AOA1 patients. The gene mutated in AOA1 is designated APTX, and the protein product of APTX is designated aprataxin.


DNA repair proteins related with ATAXIA-OCULOMOTOR APRAXIA 1 (208920) disease:
Following keywords are related to ATAXIA-OCULOMOTOR APRAXIA 1:

Last modification of this entry: Oct. 11, 2010.

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